October 2010 in “Reproductive Biomedicine Online” Women with pituitary adenomas often have reproductive issues, like irregular periods and trouble getting pregnant, but not always breast milk production without pregnancy.
31 citations
,
August 2005 in “The American Journal of Dermatopathology” The study concluded that PKP1 is essential for skin integrity and hair growth, and its dysfunction causes the symptoms of ectodermal dysplasia/skin fragility syndrome.
4 citations
,
January 2017 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
1 citations
,
September 2018 in “Australasian Journal of Dermatology” A boy with GAPO syndrome had hair loss similar to male pattern baldness without hormone issues, possibly due to skin or blood vessel problems.
5 citations
,
December 2021 in “Frontiers in Cell and Developmental Biology” Enzymes called PADIs play a key role in hair growth and loss.
September 2024 in “Journal of Medicine and Life” A specific gene mutation causes a severe skin disorder in a family.
7 citations
,
January 2013 in “Indian dermatology online journal” A rare skin condition with dark, thick, warty patches and some hair loss was found in a newborn boy.
November 2025 in “PubMed” Genetic variants in specific genes cause a type of hair loss.
13 citations
,
January 2012 in “International journal of trichology” The study found that hair fragility in Pili annulati may be caused by cavities and damage within the hair shafts.
21 citations
,
September 2013 in “Pediatric Dermatology” Growth hormone therapy can improve growth in Netherton syndrome patients with growth hormone deficiency.
6 citations
,
September 2002 in “Acta pædiatrica” A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and inhaled budesonide.
Insulin resistance is linked to many health problems and is influenced by diet, genetics, and other factors.
37 citations
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September 2002 in “Acta pædiatrica” A cystic fibrosis patient developed Cushing's syndrome from a drug interaction between itraconazole and budesonide, which improved after stopping the medications.
November 2007 in “Pediatrics in review” A boy with long QT syndrome was treated successfully, highlighting the need for careful evaluation of chest pain in children for heart conditions like LQTS.
7 citations
,
June 2009 in “Journal of the European Academy of Dermatology and Venereology” Basement membrane changes in lichen planopilaris cause scarring and permanent hair loss.
4 citations
,
December 2001 in “Endoscopy” Prednisolone and Bactrim improved symptoms in a woman with Cronkhite-Canada syndrome.
7 citations
,
January 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” NIPP1 is important for healthy skin and could help treat skin inflammation.
January 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” Skin lesions in Carney complex are likely caused by a specific group of skin cells that promote pigment production due to a genetic mutation.
39 citations
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January 2015 in “Annals of dermatology/Annals of Dermatology” Three new types of a skin blistering disease were found, caused by specific gene mutations.
4 citations
,
August 2021 in “Pediatric dermatology” Biotin, alone or with minoxidil, effectively treats short anagen syndrome.
Targeting the PGI2 pathway may help heal diabetic foot ulcers.
A rare genetic mutation causes severe immune issues, hair loss, and nail problems.
May 2024 in “Indian Journal of Dermatology” The woman has a rare skin condition called follicular Dowling-Degos disease, which has limited treatment options.
1 citations
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March 2018 in “BMJ case reports” Dilated pupils can be an early sign of HIV/AIDS.
April 2024 in “Rheumatology” A young woman with visual issues and other symptoms was diagnosed with lupus and antiphospholipid syndrome, and improved with treatment.
June 2023 in “British Journal of Dermatology” The protein called small nuclear ribonucleoprotein polypeptide E is identified as a cause of a type of hair loss without other symptoms.
32 citations
,
August 2016 in “Science Signaling” Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
9 citations
,
February 2012 in “Clinical Neurology and Neurosurgery” Dystonia may be part of PAS-4 and linked to immune issues.
June 2019 in “International journal of dermatology and venereology” A man developed skin issues from cancer medication, which improved with specific treatments.
27 citations
,
February 1988 in “Journal of the American Academy of Dermatology” The skin condition Ulerythema ophryogenes did not improve with treatment in a patient with other birth defects.